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Neurofibromatosis-1: a maximum likelihood estimation of mutation rate

✍ Scribed by Maurizio Clementi; Guido Barbujani; Licia Turolla; Romano Tenconi

Publisher: Springer
Year: 1990
Tongue: English
Weight: 350 KB
Volume: 84
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00208923

No coin nor oath required. For personal study only.

✦ Synopsis

Methods of classical segregation analysis were applied to a sample of 129 sibships with one or more individuals affected by neurofibromatosis-1 (NF-1). The sample consists only of subjects with NF-1; all the probands had been referred for genetic counselling because of café-au-lait spots, and a diagnostic protocol was invariably applied. No deviation from the segregation ratio expected for a fully penetrant Mendelian dominant gene was observed. A maximum likelihood estimate of the proportion of sporadic cases was obtained, and the mutation rate was estimated to be 6.5 x 10(-5) gametes per generation (95% CI 5.0-8.1).

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